Abdominal - Haem

Question 1

Causes of spelomegally?

Answer 1

Massive (common):
- CML
- Idiopathic myelofibrosis
- CLL
Massive (Rare)
- Malaria
- Splenic marginal zone lymphoma

Moderate:
- Causes of Massive, as well as:
- Portal HTN
- NHL
- Leukaemia (Acute or chronic)
- Thal
- Storage diseases (Gauschers disease)

Small:
- Above causes
- Other myeloproliferative diseases (PRV, ET)
- Haemolytic aneamia
- Infection
- CTD
- Infiltration
- normal variant

Question 2

Causes of lymphadenopathy?

Answer 2

Generalised and localised

Generalised:
- Lymphoma (rubbery and firm)
- Leukaemia (CLL, ALL)
- Infection
-> Viral ( EBV, CMV, HIV)
-> Bacterial TB, Brucellosis, sypohilus
-> Protozoal toxoplasmosis
- CTD (RA, SLE)
- Infiltrative (sarcoid)
- Drugs (phyenytoin)

Local:
- Local acute infection
- Mets from carcinoid oo other solid tumour
- Lymphoma (esp hodgkins)

Question 3

Causes of microcytic anaemia?

Answer 3

• IDA
  -> Chronic bleeding (most common)
  -> Malabsorption (eg coeliac)
  -> Hookworm (Blood loss)
  -> Preg (increased demand)
• Thalasaemia minor
• Sideroblastic anaemia of MDS (iron incorperation into haem is abnormal)
• Long standing anaemia of chronic disease

Question 4

Causes of macrocytic anaemia?

Answer 4

Megaloblastic bone marrow (oral macrocyte in the blood film)
- Vitamin B12 deficiency
-> Pernicious anaemia
-> Tropical Sprue or bacterial overgrowth
-> Ileal disease (crohns, ileal resection >60cm)
-> Fish tape worm
-> Poor diet (vegan)
- Folate deficiency
-> Dietary def (esp etoh)
-> Malabsorption esp Coeliac
-> Increased cell turnover (preg, leukaemia, chronic haemolysis, chronic inflam)
-> Antifolate drugs ie MTX, sulfasalizine, phenytoin

Non megaloblasstic bone marrow
- Alcohol
- Cirrhosis of the liver
- Reticulocytosis
- Marrow infiltration
- MDS
- Myeloproliferative disease

Question 5

Causes of normocytic anaemia?

Answer 5

Bone marrow failure
- Aplastic anaemia
- Ineffective haematopoesis
- Infiltration

Anaemia of chronic disease

Haemolytic anaemia
- Intracorpuscular defects
-> Hereditary spherocytosis
-> Eliptocytosis
-> Haemoglobinopathies: sickles cell, thal, PNH
- Extracorpuscular defects
-> Autoimmune (cold or warm) haemolysis
-> Hypersplenism
-> Trauma (marathon runners, prosthetic heart valve)
-> MAHA, DIC
-> Malaria

Question 6

Classification of chronic myeloid disorders?

Answer 6

Myelodysplastic syndrome (MDS)
- characterized by cellular dysplasia, variable degree of peripheral cytopenias (anaemia, thrombocytopenia and neutropenia), and bone marrow hyperplasia

Myeloproliferative neoplasms (MPN)
- unlike MDS usually show terminal myeloid cell expansion in peripheral blood.
-> PRV
-> ET
-> Chronic myeloid leukemia, chronic neutrophilic leuklaemia, chjronic eosinophilic leukaemia
-> Primary meylofibrosis

Question 7

What percentage of the 4x classic myeloproliferative neoplasms have JAK2 mutation?

What is the other characteristic mutuation?

Answer 7

PV: essentially all pts
ET: approx 50%
PMF: approx 50%

CALR

Question 8

What is the characteristic genetic abn in CML?

Answer 8

Philadelphia chromosome BCR:ABL